Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion

Kosuke Taniguchi; Mikihiro Inoue; Katsuhiro Arai; Keiichi Uchida; Osuke Migita; Yui Akemoto; Junya Hirayama; Ichiro Takeuchi; Hirotaka Shimizu; Kenichiro Hata

doi:10.1038/s41439-020-00128-4

Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion

Kosuke Taniguchi
, Mikihiro Inoue
, Katsuhiro Arai
, Keiichi Uchida
, Osuke Migita
, Yui Akemoto
, Junya Hirayama
, Ichiro Takeuchi
, Hirotaka Shimizu
, Kenichiro Hata

研究成果: ジャーナルへの寄稿 › 学術論文 › 査読

11 被引用数 (Scopus)

抄録

A20 haploinsufficiency (HA20), a disease caused by loss-of-function TNFAIP3 mutations, manifests various autoinflammatory and/or autoimmune symptoms. Some cases of HA20 were initially diagnosed as very early onset inflammatory bowel disease (VEO-IBD). We performed whole-exome sequencing (WES) for a Japanese girl with infantile-onset IBD and a severe perianal lesion and detected a novel de novo 119 kb microdeletion containing only TNFAIP3 (arr[GRCh37] 6q23.3(138125829_138244816) × 1).

本文言語	英語
論文番号	1
ジャーナル	Human Genome Variation
巻	8
号	1
DOI	https://doi.org/10.1038/s41439-020-00128-4
出版ステータス	出版済み - 12-2021
外部発表	はい

All Science Journal Classification (ASJC) codes

生化学
分子生物学
遺伝学

文献へのアクセス

10.1038/s41439-020-00128-4

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引用スタイル

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abstract = "A20 haploinsufficiency (HA20), a disease caused by loss-of-function TNFAIP3 mutations, manifests various autoinflammatory and/or autoimmune symptoms. Some cases of HA20 were initially diagnosed as very early onset inflammatory bowel disease (VEO-IBD). We performed whole-exome sequencing (WES) for a Japanese girl with infantile-onset IBD and a severe perianal lesion and detected a novel de novo 119 kb microdeletion containing only TNFAIP3 (arr[GRCh37] 6q23.3(138125829\_138244816) × 1).",

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AU - Arai, Katsuhiro

AU - Uchida, Keiichi

AU - Migita, Osuke

AU - Akemoto, Yui

AU - Hirayama, Junya

AU - Takeuchi, Ichiro

AU - Shimizu, Hirotaka

AU - Hata, Kenichiro

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AB - A20 haploinsufficiency (HA20), a disease caused by loss-of-function TNFAIP3 mutations, manifests various autoinflammatory and/or autoimmune symptoms. Some cases of HA20 were initially diagnosed as very early onset inflammatory bowel disease (VEO-IBD). We performed whole-exome sequencing (WES) for a Japanese girl with infantile-onset IBD and a severe perianal lesion and detected a novel de novo 119 kb microdeletion containing only TNFAIP3 (arr[GRCh37] 6q23.3(138125829_138244816) × 1).

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